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Exome sequencing and subsequent association studies identify five amino acid-altering variants influencing human height

Title
Exome sequencing and subsequent association studies identify five amino acid-altering variants influencing human height
Author
고인송
Keywords
Exome Sequencing; Causal Variant; Adult Height; Noonan Syndrome; Idiopathic Short Stature
Issue Date
2012-05
Publisher
Springer Science + Business Media
Citation
Human Genetics, Vol.131, No.3 [2012], p471–478
Abstract
Height is a highly heritable trait that involves multiple genetic loci. To identify causal variants that influence stature, we sequenced whole exomes of four children with idiopathic short stature. Ninety-five nonsynonymous single-nucleotide polymorphisms (nsSNPs) were selected as potential candidate variants. We performed association analysis in 740 cohort individuals and identified 11 nsSNPs in 10 loci (DIS3L2, ZBTB38, FAM154A, PTCH1, TSSC4, KIF18A, GPR133, ACAN, FAM59A, and NINL) associated with adult height (P < 0.05), including five novel loci. Of these, two nsSNPs (TSSC4 and KIF18A loci) were significant at P < 0.05 in the replication study (n = 1,000) and five (ZBTB38, FAM154A, TSSC4, KIF18A, and FAM59A loci) were significant at P < 0.01 in the combined analysis (n = 1,740). Together, the five nsSNPs accounted for approximately 2.5% of the height variation. This study demonstrated the utility of next-generation sequencing in identifying genetic variants and loci associated with complex traits.
URI
http://link.springer.com/article/10.1007/s00439-011-1096-4http://hdl.handle.net/20.500.11754/66979
ISSN
0340-6717
DOI
10.1007/s00439-011-1096-4
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COLLEGE OF MEDICINE[S](의과대학) > MEDICINE(의학과) > Articles
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